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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

QKI Gene

protein-coding   GIFtS: 61
GCID: GC06P163835

QKI, KH domain containing, RNA binding

(Previous names: quaking homolog, KH domain RNA binding (mouse) )
 Explore 10 diseases affiliated with
QKI via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for QKI    

Aliases
for QKI gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
QKI, KH Domain Containing, RNA Binding1 2     HqkI3
QK31 2     Protein Quaking2
Hqk2 3     Quaking Homolog, KH Domain RNA Binding2
Quaking Homolog, KH Domain RNA Binding (Mouse)1     RNA Binding Protein HQK2
QK2     HKQ3
QK12     HqkI3
Homolog Of Mouse Quaking QKI (KH Domain RNA Binding Protein)2     

External Ids:    HGNC: 211001   Entrez Gene: 94442   Ensembl: ENSG000001125317   OMIM: 6095905   UniProtKB: Q96PU83   

Export aliases for QKI gene to outside databases

Previous GC identifers: GC06P163188 GC06P163709 GC06P163689 GC06P163728 GC06P163806 GC06P163755 GC06P161274


Summaries
for QKI gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for QKI:
The protein encoded by this gene is an RNA-binding protein that regulates pre-mRNA splicing, export of mRNAs from the
nucleus, protein translation, and mRNA stability. The encoded protein is involved in myelinization and oligodendrocyte
differentiation and may play a role in schizophrenia. Four transcript variants encoding different isoforms have been
found for this gene.(provided by RefSeq, Sep 2011)

UniProtKB/Swiss-Prot: QKI_HUMAN, Q96PU8
Function: RNA-binding protein that plays a central role in myelinization. Binds to the 5'-NACUAAY-N(1,20)-UAAY-3' RNA
core sequence. Acts by regulating pre-mRNA splicing, mRNA export, mRNA stability and protein translation. Required to
protect and promote stability of mRNAs such as MBP and CDKN1B. Regulator of oligodendrocyte differentiation and
maturation in the brain that may play a role in myelin and oligodendrocyte dysfunction in schizophrenia. Participates
in mRNA transport by regulating the nuclear export of MBP mRNA. Also involved in regulation of mRNA splicing of MAG
pre-mRNA. Acts as a translational repressor (By similarity)

Gene Wiki entry for QKI


Genomic Views
for QKI gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the QKI gene promoter:
         NF-1   POU3F1   CUTL1   YY1   SRY   E2F-1   STAT3   Chx10   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: QKI promoter sequence
   Search SABiosciences Chromatin IP Primers for QKI

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat QKI


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q26   Ensembl cytogenetic band:  6q26   HGNC cytogenetic band: 6q26

QKI Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
QKI gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P163835:  view genomic region     (about GC identifiers)

Start:
 163,835,032 bp from pter      End:
 163,999,628 bp from pter
Size:
 164,597 bases      Orientation:
 plus strand

Proteins
for QKI gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: QKI_HUMAN, Q96PU8 (See protein sequence)
Recommended Name: Protein quaking  
Size: 341 amino acids; 37671 Da
Subunit: Homodimer. Does not require RNA to homodimerize. Able to heterodimerize with BICC1 (By similarity)
Subcellular location: Nucleus (By similarity). Cytoplasm (By similarity)
Sequence caution: Sequence=AAF63412.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA; Sequence=AAF63413.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAF63413.1; Type=Miscellaneous
discrepancy; Note=Cloning artifact in N-terminus; Sequence=AAF63414.1; Type=Erroneous initiation; Note=Translation
N-terminally shortened; Sequence=AAF63414.1; Type=Miscellaneous discrepancy; Note=Cloning artifact in N-terminus;
Sequence=AAF63415.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA; Sequence=AAF63416.1; Type=Miscellaneous
discrepancy; Note=Chimeric cDNA; Sequence=AAF63417.1; Type=Erroneous initiation; Note=Translation N-terminally
shortened; Sequence=AAF63417.1; Type=Miscellaneous discrepancy; Note=Cloning artifact in N-terminus;
Sequence=BAB55032.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q2I375 Q5MJQ1 Q969L9 Q96EJ3 Q96KA3 Q96PU6 Q96PU7 Q9P0X6 Q9P0X7 Q9P0X8 Q9P0X9
Q9P0Y0 Q9P0Y1
Alternative splicing: 6 isoforms:  Q96PU8-1   Q96PU8-3   Q96PU8-5   Q96PU8-6   Q96PU8-8   Q96PU8-9   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for QKI: NX_Q96PU8

Post-translational modifications:

  • Methylated by PRMT1 (By similarity)1
  • Tyrosine phosphorylated at its C-terminus, probably by FYN. Phosphorylation leads to decreased mRNA-binding affinity,
    • affecting transport and/or stabilization of MBP mRNA (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96PU8

    • QKI Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (4 alternative transcripts): 
    NP_006766.1  NP_996735.1  NP_996736.1  NP_996737.1  

    ENSEMBL proteins: 
     ENSP00000354951   ENSP00000408775   ENSP00000275262   ENSP00000375973   ENSP00000355094  
     ENSP00000354867   ENSP00000408382   ENSP00000437867   ENSP00000443690   ENSP00000440991  
     ENSP00000443106   ENSP00000441252   ENSP00000440599   ENSP00000441773   ENSP00000442848  

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    Novus Biologicals QKI Protein
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    Uscn Proteins for QKI

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane ----


    QKI for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for QKI

    Protein Domains /
    Families
    for QKI gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    QKI for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR004087 KH_dom
     IPR004088 KH_dom_type_1

    Graphical View of Domain Structure for InterPro Entry Q96PU8

    ProtoNet protein and cluster: Q96PU8

    2 Blocks protein families:
    IPB004087 KH domain
    IPB004088 KH


    UniProtKB/Swiss-Prot: QKI_HUMAN, Q96PU8
    Similarity: Contains 1 KH domain


    Function
    for QKI gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: QKI_HUMAN, Q96PU8
    Function: RNA-binding protein that plays a central role in myelinization. Binds to the 5'-NACUAAY-N(1,20)-UAAY-3' RNA
    core sequence. Acts by regulating pre-mRNA splicing, mRNA export, mRNA stability and protein translation. Required to
    protect and promote stability of mRNAs such as MBP and CDKN1B. Regulator of oligodendrocyte differentiation and
    maturation in the brain that may play a role in myelin and oligodendrocyte dysfunction in schizophrenia. Participates
    in mRNA transport by regulating the nuclear export of MBP mRNA. Also involved in regulation of mRNA splicing of MAG
    pre-mRNA. Acts as a translational repressor (By similarity)

    miRNA
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    8/326 QIAGEN miScript miRNA Assays for microRNAs that regulate QKI (see all 326):
    hsa-miR-411* hsa-miR-579 hsa-miR-146a hsa-miR-4275 hsa-miR-1243 hsa-miR-200b hsa-miR-642b hsa-miR-509-3-5p
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI16713569
    GO:0017124SH3 domain binding IEA--


    QKI for ontologies           About GeneDecksing


    Animal Models:
         11 MGI mutant phenotypes (inferred from 8 alleles) (MGI details for Qk):
     behavior/neurological  cardiovascular system  embryogenesis  growth/size  hearing/vestibular/ear 
     hematopoietic system  homeostasis/metabolism  limbs/digits/tail  mortality/aging  nervous system 
     reproductive system 

    QKI for phenotypes           About GeneDecksing


    Pathways & Interactions
    for QKI gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Diurnally regulated genes with circadian orthologs
    		Diurnally regulated genes with circadian orthologs1.00


    1 BioSystems Pathway for QKI 
        Diurnally regulated genes with circadian orthologs


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for QKI

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/69 Interacting proteins for QKI (Q96PU81, 2, 3 ENSP000003549514) via UniProtKB, MINT, STRING, and/or I2D (see all 69)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTBP1P265991, 2, 3, ENSP000003494284EBI-945792,EBI-744534 MINT-2855611 MINT-8339422 MINT-2862237 I2D: score=3 STRING: ENSP00000349428
    PCBP1Q153651, 2, 3, ENSP000003055564EBI-945792,EBI-946095 MINT-2866427 MINT-2856312 I2D: score=3 STRING: ENSP00000305556
    HCLS1P143172, 3, ENSP000003201764MINT-2859489 I2D: score=3 STRING: ENSP00000320176
    RNF138Q8WVD32, 3, ENSP000002615934MINT-2873404 I2D: score=3 STRING: ENSP00000261593
    THAP1Q9NVV92, 3, ENSP000002542504MINT-2874079 I2D: score=3 STRING: ENSP00000254250
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001570vasculogenesis IEA--
    GO:0006397mRNA processing IEA--
    GO:0006417regulation of translation IEA--
    GO:0007286spermatid development IEA--
    GO:0008366axon ensheathment ----


    QKI for ontologies           About GeneDecksing



    Drugs & Compounds
    for QKI gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for QKI
    Search CenterWatch for drugs/clinical trials and news about QKI 

    Transcripts
    for QKI gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for QKI gene (4 alternative transcripts): 
    NM_006775.2  NM_206853.2  NM_206854.2  NM_206855.2  

    Unigene Cluster for QKI:

    QKI, KH domain containing, RNA binding
    Hs.510324  [show with all ESTs]
    Unigene Representative Sequence: NM_206855
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361758 ENST00000453779 ENST00000275262 ENST00000392127 ENST00000361752(uc003qui.3 uc003que.3 uc003quf.3 uc003qug.3 uc003quj.3 uc003quh.3)
    ENST00000361195 ENST00000424802 ENST00000545607 ENST00000544436 ENST00000537041
    ENST00000537124 ENST00000545346 ENST00000544823 ENST00000537883 ENST00000540719
    ENST00000544361 ENST00000541696

    miRNA
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    8/326 QIAGEN miScript miRNA Assays for microRNAs that regulate QKI (see all 326):
    hsa-miR-411* hsa-miR-579 hsa-miR-146a hsa-miR-4275 hsa-miR-1243 hsa-miR-200b hsa-miR-642b hsa-miR-509-3-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Additional cDNA sequence: 

    AB067798.1 AB067799.1 AB067800.1 AB067801.1 AF272349.1 AJ420502.1 AK027309.1 AK055085.1 
    AK074562.1 AK096701.1 AK295235.1 AK308784.1 AL050218.1 AY780788.1 BC008190.1 BC012222.1 
    BC019917.2 DQ323998.1 

    24/35 DOTS entries (see all 35):

    DT.454551  DT.101973994  DT.95256589  DT.100798534  DT.121644952  DT.444196  DT.100798531  DT.97781562 
    DT.206927  DT.212668  DT.100798536  DT.426724  DT.100798532  DT.121391671  DT.92439646  DT.100798527 
    DT.121391768  DT.95137009  DT.95256562  DT.100798529  DT.91641735  DT.92439628  DT.100798528  DT.100889285 

    24/580 AceView cDNA sequences (see all 580):

    BU508110 AA453745 CB178554 AB067800 AL120142 CA426750 AA382813 BQ879486 
    AI243360 AA081946 CA311358 AI565215 BM672054 BE348332 AI277908 AA317356 
    CB409425 AA478104 BQ778392 AA382812 H41198 AL596541 AA280004 BU677676 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for QKI (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b
    SP1:                    -                 -                                                     -     -     -                     
    SP2:                    -                 -                                                                                       
    SP3:                    -                 -                                   -                                                   
    SP4:                                                                          -                 -     -     -                     
    SP5:                                      -     -                                               -     -     -                     


    ECgene alternative splicing isoforms for QKI

    Expression
    for QKI gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    QKI expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTGTTTGTAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    QKI expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    9 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Spinal CordSpinal Dorsal ColumnsDorsal Spinal Cord Progenitor CellsSpinal Cord
    Spinal CordSpinal Ventral ColumnsVentral Spinal Cord Progenitor CellsMotor Neurons
    BrainHypothalamusBrain
    BrainMedulla OblongataBrain
    Neural TubeMetencephalonNeural Tube
    Neural TubeTelencephalonNeural Tube
    Spinal CordPresumptive Spinal CordSpinal Cord
    Spinal CordSpinal Dorsal ColumnsSpinal Cord
    Spinal CordSpinal Ventral ColumnsSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Blimp1- mVenus and stella-ECFP genetically modified stem cells (Embryonic Stem Cell)Early Embryo, Inner Cell Mass

    See QKI Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for QKI

    SOURCE GeneReport for Unigene cluster: Hs.510324

    UniProtKB/Swiss-Prot: QKI_HUMAN, Q96PU8
    Tissue specificity: Expressed in the frontal cortex of brain. Down-regulated in the brain of schizophrenic patients

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    In Situ
    Assay Products:     
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    Orthologs
    for QKI gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for QKI gene from 8/25 species (see all 25)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves QKI1 quaking homolog, KH domain RNA binding (mouse) 91.83(n)
    99.03(a)    		   374204  NM_204310.2  NP_989641.2 
    lizard
    (Anolis carolinensis)    		 Reptilia QKI6
    		 --
    		 98(a)
    		 1 ↔ 1
    		 1(209990904-210137881)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.335702 Xenopus laevis transcribed sequence with weak similarity to protein pirA38219 (H.sapiens) A38219 GAP-associated tyrosine phosphoprotein p62 - human less 85.86(n)    48050720 
    zebrafish
    (Danio rerio)    		 Actinopterygii zgc658902 hypothetical protein MGC65890 76.21(n)   393815  BC061709.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta how3 RNA binding 50(a)     --
    worm
    (Caenorhabditis elegans)    		 Secernentea T21G5.53
    gld-11    		 Protein GLD-11 63(a)
    (best of 2)3
    57.86(n)1
    55.41(a)1    		   I(6887042-6891034)3
    1725321  NM_059742.51  NP_492143.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT2G386106
    AT3G086206
    (see all 5)    		 RNA-binding KH domain-containing protein
    (see all 5)    		 27(a)
    27(a)
    (see all 5)    		 many ↔ many
    many ↔ many
    (see all 5)    		 2(16147113-16149873)
    3(2617768-2620573)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 7)    		 KH domain containing protein, putative, expressed
    (see all 7)    		 28(a)
    28(a)
    (see all 7)    		 many ↔ many
    many ↔ many
    (see all 7)    		 3(34179264-34183709)
    7(7119724-7125463)


    ENSEMBL Gene Tree for QKI (if available)
    TreeFam Gene Tree for QKI (if available) 

    Paralogs
    for QKI gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for QKI gene
    KHDRBS22  SF12  KHDRBS32  KHDRBS12  
    2 SIMAP similar genes for QKI using alignment to 9 protein entries:     QKI_HUMAN (see all proteins):
    KHDRBS3    KHDRBS2

    QKI for paralogs           About GeneDecksing



    Genomic Variants
    for QKI gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2786 NCBI SNPs in QKI are shown (see all 2786)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1478636671,2
    		--163833698(+) TTACTA/TTTCCC 5 -- us2k1 int10--------
    rs1167371801,2
    		C,F,--163833703(+) ATTCCC/ATGCAT 5 -- int1 us2k11Minor allele frequency- A:0.02WA 118
    rs1822057411,2
    		--163833717(+) GAAAGC/TTCATC 5 -- int1 us2k10--------
    rs1400747511,2
    		--163833777(+) CGGCT-/GGG   
      GGGGGG    GTTGG     		5 -- int1 us2k10--------
    rs1416685821,2
    		--163833919(+) CTACTC/TAGCGT 5 -- us2k1 int10--------
    rs2012963871,2
    		--163833940(+) TTCTT-/ATAG  
     TGCCTTC    AGTAC     		5 -- us2k1 int10--------
    rs732447491,2
    		C,--163834006(+) TTTACC/AAAAAA 5 -- int1 us2k11Minor allele frequency- A:0.50WA 2
    rs1137178671,2
    		C,--163834113(+) TCTGCA/GTTATT 5 -- nc-transcript-variantus2k12Minor allele frequency- G:0.03CSA WA 120
    rs730135961,2
    		C,F,--163834157(+) TGCAGA/TCGTAG 5 -- nc-transcript-variantus2k12Minor allele frequency- T:0.05WA NA 238
    rs1512037051,2
    		--163834232(+) AACAAC/GTCTAA 5 -- nc-transcript-variantus2k10--------

    HapMap Linkage Disequilibrium report for QKI (163835032 - 163999628 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for QKI
         2 CNVs: 3651 69648
    Human Gene Mutation Database (HGMD): QKI

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing QKI
    DNA2.0 Custom Variant and Variant Library Synthesis for QKI

    Disorders / Diseases
    for QKI gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    QKI for disorders           About GeneDecksing

    OMIM gene information: 609590    OMIM disorders: --

    10 diseases for QKI:    About MalaCards
    schizophrenia    major depressive disorder    rheumatoid arthritis    azoospermia
    colon cancer    arthritis    pharyngitis    glioblastoma
    ataxia    malaria

    1 disease from the University of Copenhagen DISEASES database for QKI:
    Schizophrenia
    Human Genome Epidemiology (HuGE) Navigator: QKI (1 document)

    Export disorders for QKI gene to outside databases

    Publications
    for QKI gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for QKI gene, integrated from 9 sources (see all 61):
    (articles sorted by number of sources associating them with QKI)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Human QKI, a potential regulator of mRNA expression of human oligodendrocyte-related genes involved in schizophrenia. (PubMed id 16641098)1, 2 Aberg K.... Jazin E. (2006)
    2. Human QKI, a new candidate gene for schizophrenia involved in myelination. (PubMed id 16342280)1, 2 Aeberg K.... Jazin E. (2006)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    6. Expression of Hqk encoding a KH RNA binding protein is altered in human glioma. (PubMed id 11856480)1, 2 Li Z.Z.... Abe K. (2002)
    7. The STAR protein QKI-6 is a translational repressor. (PubMed id 10535969)1, 3 Saccomanno L....Goodwin E.B. (1999)
    8. Characterization of QKI gene expression, genetics, an d epigenetics in suicide victims with major depressive disorder. (PubMed id 19545858)1, 9 Klempan T.A....Turecki G. (2009)
    9. The human homolog of the QKI gene affected in the severe dysmyelination 'quaking' mouse phenotype: downregulated in multiple brain regions in schizophrenia. (PubMed id 17012699)1, 9 Haroutunian V....Davis K.L. (2006)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)

    External Searches for QKI gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing QKI gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9444 HGNC: 21100 AceView: QKI Ensembl:ENSG00000112531 euGenes: HUgn9444
    ECgene: QKI H-InvDB: QKI

    Other Databases showing QKI gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing QKI gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for QKI Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for QKI gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for QKI gene:
    Search GeneIP for patents involving QKI

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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